A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554143



Internal ID327338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117856513..117863288hg38UCSC Ensembl
chr8:118868752..118875527hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg386776
hg196776
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015304
Samples
Known GenesEXT1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554143
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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